Variant report

Variant	nsv1042985
Chromosome Location	chr13:92107844-92132698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92098332..92100231-chr13:92111695..92113282,2	K562	blood:
2	chr13:91999007..92001026-chr13:92110690..92112371,2	K562	blood:
3	chr13:92106168..92109091-chr13:92193119..92195510,2	K562	blood:
4	chr13:92007639..92009819-chr13:92131676..92134611,2	K562	blood:
5	chr13:92102206..92105802-chr13:92108193..92112273,4	K562	blood:
6	chr13:92123332..92125906-chr13:92134652..92136201,2	K562	blood:
7	chr13:92107891..92113642-chr13:92115270..92120759,5	K562	blood:
8	chr13:92107891..92113642-chr13:92115270..92120759,5	K562	blood:
9	chr13:92114420..92116550-chr13:92120622..92123515,2	K562	blood:
10	chr13:92115969..92118461-chr13:92125047..92127924,2	K562	blood:
11	chr13:92130354..92132978-chr13:92134127..92137627,4	K562	blood:
12	chr13:92114420..92116550-chr13:92120622..92123515,2	K562	blood:
13	chr13:92122838..92124577-chr13:92141726..92143965,2	K562	blood:
14	chr13:92004480..92006779-chr13:92126847..92129615,2	K562	blood:
15	chr13:92006220..92009272-chr13:92105291..92108928,4	K562	blood:
16	chr13:92119062..92121463-chr13:92291880..92293411,2	K562	blood:
17	chr13:92006220..92010132-chr13:92106545..92110507,4	K562	blood:
18	chr13:92009508..92013495-chr13:92125822..92129742,3	K562	blood:
19	chr13:91999007..92001078-chr13:92110739..92112371,2	K562	blood:
20	chr13:92115969..92118461-chr13:92125047..92127924,2	K562	blood:
21	chr13:92009144..92010827-chr13:92120030..92122675,2	K562	blood:
22	chr13:92127298..92129816-chr13:92213589..92216245,2	K562	blood:
23	chr13:91997506..92000285-chr13:92107831..92110629,2	K562	blood:
24	chr13:92001143..92004079-chr13:92125525..92127608,2	K562	blood:
25	chr13:91996168..91998142-chr13:92114468..92116785,2	K562	blood:
26	chr13:92123497..92125902-chr13:92151916..92153819,3	K562	blood:
27	chr13:92002721..92004568-chr13:92114750..92116666,2	K562	blood:
28	chr13:92009784..92014607-chr13:92111183..92117003,5	K562	blood:
29	chr13:92102195..92104409-chr13:92117038..92118758,2	K562	blood:
30	chr13:91998601..92001213-chr13:92125958..92127957,2	K562	blood:
31	chr13:92014568..92016594-chr13:92120306..92123284,2	K562	blood:
32	chr13:91996642..91999334-chr13:92113373..92115968,2	K562	blood:
33	chr13:92027179..92027845-chr13:92111753..92112363,2	MCF-7	breast:
34	chr13:92095018..92096563-chr13:92116969..92119878,2	K562	blood:
35	chr13:92033584..92034291-chr13:92111449..92112023,3	MCF-7	breast:
36	chr13:92006840..92009442-chr13:92110730..92113341,2	K562	blood:
37	chr13:92121197..92123772-chr13:92150006..92151783,2	K562	blood:
38	chr13:92115826..92117568-chr13:92136688..92139135,2	K562	blood:
39	chr13:92008416..92011064-chr13:92130907..92133015,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 403 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577777489	chr13:92107851-92107852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543343802	chr13:92107906-92107907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563647485	chr13:92107922-92107923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74106766	chr13:92108011-92108012	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183658766	chr13:92108069-92108070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559340054	chr13:92108121-92108122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577533328	chr13:92108182-92108183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528540315	chr13:92108186-92108187	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188418615	chr13:92108196-92108197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113217541	chr13:92108203-92108204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531172946	chr13:92108222-92108223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1359222	chr13:92108253-92108254	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs16945959	chr13:92108267-92108268	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181272641	chr13:92108268-92108269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555367392	chr13:92108348-92108349	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565683522	chr13:92108400-92108401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184903161	chr13:92108408-92108409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190196075	chr13:92108422-92108423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577760444	chr13:92108455-92108456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34227770	chr13:92108468-92108469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79728812	chr13:92108509-92108510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573567495	chr13:92108535-92108536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542537054	chr13:92108573-92108574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540978733	chr13:92108642-92108643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528303713	chr13:92108657-92108658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181894579	chr13:92108663-92108664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9560799	chr13:92108669-92108670	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545161622	chr13:92108683-92108684	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9560800	chr13:92108700-92108701	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530989615	chr13:92108741-92108742	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187193983	chr13:92108764-92108765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191068575	chr13:92108776-92108777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567873899	chr13:92108842-92108843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9560801	chr13:92108858-92108859	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372201032	chr13:92108873-92108874	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77255798	chr13:92108885-92108886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs180731175	chr13:92108894-92108895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185397806	chr13:92108921-92108922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77560431	chr13:92108957-92108958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9560802	chr13:92108996-92108997	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117524994	chr13:92109013-92109014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556712956	chr13:92109016-92109017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189958595	chr13:92109028-92109029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542471186	chr13:92109063-92109064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs67560339	chr13:92109086-92109087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552886347	chr13:92109163-92109164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567056519	chr13:92109175-92109176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573151128	chr13:92109200-92109201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74704808	chr13:92109224-92109225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78140577	chr13:92109298-92109299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92119600-92120800	Enhancers	Hela-S3	cervix
2	chr13:92120200-92121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:92120200-92121000	Enhancers	HMEC	breast
4	chr13:92120200-92121000	Enhancers	NHEK	skin
5	chr13:92120200-92121400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:92121000-92122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:92122400-92122600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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